Human biological resources available in our catalogue

Discover the human biological resources available in our BioJeL catalogue in January 2023

TRISOMY 21 ADN PLASMAS * PBMCs LCL FIBROBLASTES CSF NB OF PATIENTS NB OF LONGITUDINAL SAMPLES
Free and homogeneous Trisomy 21 1343 4189 1647 1594 64 8 793 305
Clinical Trisomy 21 739 2170 827 1032 - 16 549 113
Trisomy 21 by translocation 57 192 63 58 - - 36 12
Trisomy 21 in mosaic 21 87 24 27 13 - 16 5

* includes HL plasma, Citrated plasma and EDTA plasma

INTELLECTUAL DISABILITIES OF UNKNOWN ORIGIN ADN PLASMAS  PBMCs LCL FIBROBLASTS NB OF PATIENTS NB OF LONGITUDINAL SAMPLES
Intellectual disability of unknown origin 405 1309 544 806 - 377 48
OTHER INTELLECTUAL DISABILITIES OF KNOWN ORIGIN DNA PLASMAS  PBMCs LCL FIBROBLASTS NB OF PATIENTS NB OF LONGITUDINAL SAMPLES
Chromosomal disease 72 216 93 114 - 65 6
X - Fragile complete mutation 22 96 33 37 - 23 1
X - Fragile complete aymptomatic mutation 5 6 7 11 - 5 1
X-fragile premutation 5 13 8 6 - 5 1
5p deletion 14 61 21 36 - 11 3
Genetic anomaly 14 41 17 23 - 13 1
Williams Beuren Syndrome 8 23 7 10 - 6 1
Smith Magenis Syndrome 8 30 9 20 - 7 1
Angelman's syndrome 10 46 15 10 - 9 2
Rett syndrome 4 9 4 6 - 3 1
Di Georges syndrome 7 33 9 18 - 6 1
CONTROLS DNA PLASMAS  PBMCs LCL FIBROBLASTS NB OF PATIENTS NB OF LONGITUDINAL SAMPLES
Trisomy 21 120 201 123 233 30 121 2
Intellectual disabilities of unknown origin 107 353 139 224 - 104 7
Other intellectual disabilities of known origin 61 117 85 110 - 60 3

Psychometric data

NB of subjects 0 to 18 YO 19 to 35 YO 36 YO and over
Male Woman Male Woman Male Woman
Trisomy 21 390 299 175 590 259 214
Intellectual disabilities of unknown origin 161 88 47 35 20 30
Other intellectual disabilities of known origin 16 17 6 15 3 9
Controls 3 2 10 29 12 17

Neuropsychological data*

NB of subjects High QI Neuropsychological evaluation
Male Woman Male Woman
Trisomy 21 16 19 112 87
Intellectual disabilities of unknown origin - - 4 6
Other intellectual disabilities of known origin - - 1 3

* Data available since early 2020